Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency
- 1 February 1992
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 151 (2) , 121-126
- https://doi.org/10.1007/bf01958956
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- SUDDEN INFANT DEATH AND LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASEThe Lancet, 1989
- Normalization of short‐chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathyAnnals of Neurology, 1989
- Peroxisomal disorders in neurologyJournal of the Neurological Sciences, 1988
- Abnormalities of Fatty Acid OxidationNew England Journal of Medicine, 1988
- Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?Journal of Inherited Metabolic Disease, 1988
- Very long chain fatty acid β-oxidation by subcellular fractions of normal and Zellweger syndrome skin fibroblastsArchives of Biochemistry and Biophysics, 1987
- Dicarboxylic aciduria in an infant with spinal muscular atrophyAnnals of Neurology, 1986
- Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblastsBiochemical Medicine, 1985
- Purification and properties of mitochondrial and peroxisomal 3-hydroxyacyl-CoA dehydrogenase from rat liverArchives of Biochemistry and Biophysics, 1980
- On the mechanism of malonyl-CoA-independent fatty acid synthesisBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1968